O95831
PR
Gene name |
AIFM1 |
Protein name |
Apoptosis-inducing factor 1, mitochondrial |
Names |
Programmed cell death protein 8 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9131 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
21 structures for O95831
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1M6I | X-ray | 180 A | A | 121-613 | PDB |
| 4BUR | X-ray | 288 A | A/B/C/D | 103-613 | PDB |
| 4BV6 | X-ray | 180 A | A | 121-613 | PDB |
| 4FDC | X-ray | 240 A | B | 103-613 | PDB |
| 4LII | X-ray | 188 A | A | 100-611 | PDB |
| 5FMH | X-ray | 180 A | A | 104-613 | PDB |
| 5FS6 | X-ray | 190 A | A/B | 103-613 | PDB |
| 5FS7 | X-ray | 185 A | A/B | 103-613 | PDB |
| 5FS8 | X-ray | 140 A | A | 103-613 | PDB |
| 5FS9 | X-ray | 175 A | A/B | 103-613 | PDB |
| 5KVH | X-ray | 227 A | A/B | 78-613 | PDB |
| 5KVI | X-ray | 200 A | A | 78-613 | PDB |
| 8D3E | X-ray | 238 A | A/B | 78-613 | PDB |
| 8D3G | X-ray | 258 A | A/B | 78-613 | PDB |
| 8D3H | X-ray | 251 A | A/B | 78-613 | PDB |
| 8D3I | X-ray | 265 A | A/B | 78-613 | PDB |
| 8D3J | X-ray | 240 A | A/B | 78-613 | PDB |
| 8D3K | X-ray | 230 A | A/B | 78-613 | PDB |
| 8D3N | X-ray | 225 A | A/B | 78-613 | PDB |
| 8D3O | X-ray | 225 A | A/B | 78-613 | PDB |
| AF-O95831-F1 | Predicted | AlphaFoldDB |
296 variants for O95831
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs143831137 RCV001341570 CA10515549 |
10 | G>D | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA335109948 RCV001064872 rs912356394 |
25 | V>A | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000475567 RCV000333876 CA289339 RCV001573470 RCV000123571 rs61730896 RCV002498588 |
35 | P>S | Severe X-linked mitochondrial encephalomyopathy Charcot-Marie-Tooth Neuropathy X Charcot-Marie-Tooth disease X-linked recessive 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA319902 RCV001722087 rs756361109 RCV000654858 RCV002381675 |
45 | P>R | Charcot-Marie-Tooth Neuropathy X Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002535446 RCV001507545 CA10515525 RCV000817329 RCV001199842 rs369523358 |
47 | E>D | Charcot-Marie-Tooth Neuropathy X Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001207920 rs1227558669 |
48 | L>missing | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003135985 RCV001329822 rs867606904 CA335126500 |
49 | Q>H | Severe X-linked mitochondrial encephalomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs201711375 RCV000766070 RCV000514093 CA10515523 RCV000699009 RCV000623865 |
57 | S>C | Charcot-Marie-Tooth Neuropathy X Charcot-Marie-Tooth disease X-linked recessive 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs142864613 RCV001221229 CA10515521 |
63 | K>E | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001324863 rs2031166484 |
78 | V>I | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002458439 CA414593705 rs1603230120 RCV000797319 |
80 | A>T | Charcot-Marie-Tooth Neuropathy X Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002557449 CA414593684 rs1488258655 RCV001168505 |
83 | Y>C | Charcot-Marie-Tooth Neuropathy X Severe X-linked mitochondrial encephalomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10515481 rs779484508 RCV001040714 |
85 | Y>H | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002058825 CA10515479 RCV000295299 rs750098055 |
88 | M>V | Severe X-linked mitochondrial encephalomyopathy Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000972569 rs149319206 RCV001638023 RCV002434332 CA10515477 |
92 | E>K | Charcot-Marie-Tooth Neuropathy X Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001297632 rs2030882411 |
95 | Y>C | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10515475 rs764149793 RCV002436028 RCV000233284 |
96 | N>S | Charcot-Marie-Tooth Neuropathy X Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001166795 RCV002451266 CA10515469 rs772308346 COSM1115031 RCV001062623 |
114 | A>T | Severe X-linked mitochondrial encephalomyopathy Charcot-Marie-Tooth Neuropathy X Variant assessed as Somatic; 0.0 impact. endometrium Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000792594 RCV001731928 CA10515468 rs138662844 |
114 | A>V | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002458469 RCV000801623 CA335123077 rs145943366 |
117 | A>V | Charcot-Marie-Tooth Neuropathy X Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
CA10515459 rs751325295 RCV001218816 |
124 | P>T | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001309611 CA414589182 rs763912966 |
128 | A>V | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000907858 CA414588971 rs1603227409 |
141 | T>I | Charcot-Marie-Tooth disease X-linked recessive 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs724160015 CA175054 RCV000149858 |
145 | A>V | Deafness, X-linked 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs752742151 RCV000768430 CA320452 RCV001071849 RCV000196053 |
151 | R>Q | Severe X-linked mitochondrial encephalomyopathy Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs193920813 RCV000149347 COSM1179361 CA174829 |
166 | P>L | Malignant tumor of prostate prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001880043 RCV003135901 RCV001262516 rs2030801584 |
169 | P>L | Severe X-linked mitochondrial encephalomyopathy Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2030801103 RCV001173129 |
171 | M>I | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2030801273 RCV001066988 |
171 | M>V | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002226478 rs765298573 CA10515438 RCV000813177 RCV000659180 |
186 | N>D | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs724160016 CA175056 RCV000149859 |
191 | L>P | Deafness, X-linked 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10515432 RCV000552596 rs143670174 RCV002358622 |
199 | K>N | Charcot-Marie-Tooth Neuropathy X Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_063827 rs387906500 RCV000012302 |
201 | R>missing | Severe X-linked mitochondrial encephalomyopathy COXPD6; higher DNA binding affinity, partially impaired flavin binding and association with increased parthanatos-linked cell death [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV002356803 RCV002526042 RCV001172831 RCV000490175 rs886703882 CA335122829 |
201 | R>K | Charcot-Marie-Tooth Neuropathy X Charcot-Marie-Tooth disease Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs387906500 VAR_063827 |
201 | R>del | COXPD6; higher DNA binding affinity, partially impaired flavin binding and association with increased parthanatos-linked cell death [UniProt] | Yes |
UniProt dbSNP |
|
CA414587081 RCV000802263 rs1603226664 |
210 | F>L | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000806645 CA414586921 rs1170792825 RCV001766681 |
216 | D>N | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA414583551 CA10515403 VAR_083739 RCV000856718 rs377527583 |
235 | Q>H | Spondyloepimetaphyseal dysplasia, Bieganski type SEMDHL; severe decrease of protein expression [ClinVar, UniProt] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD UniProt |
|
VAR_083740 rs1202786652 RCV000856716 CA414583511 |
237 | D>G | Spondyloepimetaphyseal dysplasia, Bieganski type SEMDHL [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
VAR_083741 rs1202786652 CA414583508 RCV000521704 |
237 | D>V | SEMDHL [UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA10515401 RCV001037431 rs138123187 RCV002372755 |
242 | M>V | Charcot-Marie-Tooth Neuropathy X Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1603225138 CA414583346 VAR_072791 RCV000907860 |
243 | V>L | Severe X-linked mitochondrial encephalomyopathy COXPD6; reduced protein amount in muscle compared to controls; no effect on reduction with NADH; strongly decreased NADH oxidase activity; no effect on dimerization; no effect on DNA-binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_076211 CA279883 rs863225432 RCV000202359 |
260 | T>A | Deafness, X-linked 5 DFNX5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1603224817 CA414582756 VAR_083067 RCV000907854 |
262 | G>S | Charcot-Marie-Tooth disease X-linked recessive 4 probable disease-associated variant found in patient with mitochondrial encephalomyopathy with moderate clinical severity and slow progressive course despite early onset as well as and cerebellar involvement; decreased protein level; strongly decreased redox potential; strongly decreased NADH oxidase activity; no effect on DNA-binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs724160017 RCV001347906 RCV000149860 CA175058 |
282 | T>M | Charcot-Marie-Tooth Neuropathy X Deafness, X-linked 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA175060 rs724160018 RCV000149861 |
287 | I>T | Deafness, X-linked 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000811082 rs766786579 RCV002225737 CA10515373 |
298 | R>Q | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200114054 RCV002372727 RCV001004056 CA10515372 |
304 | T>M | Intellectual disability Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1603224226 CA414581092 VAR_067334 RCV000907842 |
308 | G>E | Severe X-linked mitochondrial encephalomyopathy COXPD6; with prenatal ventriculomegaly and severe postnatal encephalomyopathy; no effect on redox potential; slowered reduction with NADH; strongly decreased NADH oxidase activity; strongly decreased NADH oxidase activity; no effect on DNA-binding; decreased interaction with CHCHDE [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA10515369 RCV001040748 RCV000730174 rs773680831 |
318 | A>T | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001243224 rs2030463268 |
319 | L>H | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinVar dbSNP |
|
rs757644205 RCV001035377 CA10515353 |
324 | R>Q | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2030380751 RCV001299321 |
327 | G>V | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000795040 CA414579884 rs1603223158 RCV002468607 |
336 | E>K | Charcot-Marie-Tooth Neuropathy X Charcot-Marie-Tooth disease X-linked recessive 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_083068 RCV000907852 rs1603223152 CA414579818 |
338 | G>E | Severe X-linked mitochondrial encephalomyopathy COXPD6; with early-onset severe motor neuron involvement; decreased protein levels; decreased oxidoreductase activity on cytochrome C; slowered reduction with NADH; strongly decreased NADH oxidase activity; strongly decreased NADH oxidase activity; no effect on DNA-binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001311404 CA16043577 rs1057518895 RCV000415225 RCV000789722 RCV001385157 |
340 | M>T | Charcot-Marie-Tooth Neuropathy X Sensorineural hearing loss disorder Charcot-Marie-Tooth disease X-linked recessive 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000149862 VAR_076212 RCV002051816 RCV000868580 rs184474885 CA175062 |
344 | L>F | Charcot-Marie-Tooth Neuropathy X Deafness, X-linked 5 DFNX5; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs746856770 RCV001860353 CA10515346 RCV002395634 RCV000609681 |
346 | E>K | Charcot-Marie-Tooth Neuropathy X Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10515345 RCV001231423 rs773200122 RCV002402724 |
349 | S>G | Charcot-Marie-Tooth Neuropathy X Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1157071585 CA414579195 COSM1115021 RCV001046566 |
353 | M>T | Charcot-Marie-Tooth Neuropathy X endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
VAR_076213 CA175078 RCV000149870 rs724160026 |
360 | G>R | Deafness, X-linked 5 DFNX5; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA414578718 rs1569417347 RCV000698851 |
361 | V>I | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1242184469 CA414578553 RCV000814995 |
365 | P>R | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002514868 CA175064 rs724160019 RCV000149863 |
366 | N>S | Charcot-Marie-Tooth Neuropathy X Deafness, X-linked 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1444952549 CA414578325 RCV001070075 |
369 | V>L | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000654859 rs1056740593 CA335118124 RCV003140046 RCV002440392 |
372 | V>I | Charcot-Marie-Tooth Neuropathy X Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057521792 RCV000440195 RCV001861539 CA16609125 |
374 | V>I | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001298572 rs1217648919 CA414577640 |
384 | K>R | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001232414 rs2030326799 |
403 | N>S | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207094 CA10515312 rs753549726 |
411 | G>D | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000990944 rs1603222490 CA414574887 |
414 | I>T | Deafness, X-linked 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs724160021 VAR_076214 CA175068 RCV000149865 |
422 | R>Q | Deafness, X-linked 5 DFNX5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001383393 CA175066 RCV001814071 rs724160020 RCV000149864 RCV001532712 VAR_076215 |
422 | R>W | Charcot-Marie-Tooth Neuropathy X Deafness, X-linked 5 Variant assessed as Somatic; impact. Ear malformation DFNX5 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
VAR_076216 CA414574524 rs1223488720 |
430 | R>C | Variant assessed as Somatic; impact. DFNX5; unknown pathological significance [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt NCI-TCGA dbSNP gnomAD |
|
CA175076 RCV000149869 rs724160025 |
440 | A>V | Deafness, X-linked 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863225431 VAR_076217 CA279885 RCV000202363 RCV002254916 |
451 | R>Q | Deafness, X-linked 5 DFNX5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001166265 CA414573648 rs1356446773 RCV001214647 RCV002379665 |
452 | V>A | Charcot-Marie-Tooth Neuropathy X Severe X-linked mitochondrial encephalomyopathy Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000235074 rs202219398 CA10515294 RCV000538656 RCV000837953 |
463 | R>I | Charcot-Marie-Tooth Neuropathy X Charcot-Marie-Tooth disease X-linked recessive 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_076218 | 472 | A>V | DFNX5; unknown pathological significance [UniProt] | Yes | UniProt |
|
CA175070 VAR_076219 RCV002516010 RCV000149866 rs724160022 |
475 | P>L | Charcot-Marie-Tooth Neuropathy X Deafness, X-linked 5 DFNX5; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000408758 rs1057516211 CA10654936 |
479 | Q>R | Severe X-linked mitochondrial encephalomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001208296 RCV002562343 CA10515275 RCV002285022 rs748493176 |
489 | D>N | Charcot-Marie-Tooth Neuropathy X Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_069468 RCV000032801 CA261189 rs281864468 |
493 | E>V | Charcot-Marie-Tooth disease X-linked recessive 4 CMTX4; increases affinity for NADH and electron transfer activity; increases affinity for DNA, resulting in increased apoptosis; no effect on interaction with CHCHD4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000531658 CA414571241 rs1556254400 |
494 | A>V | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001243674 rs2030090475 RCV002462873 |
495 | I>V | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000149867 CA175072 VAR_076220 rs724160023 |
498 | V>M | Deafness, X-linked 5 DFNX5; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA16616630 RCV001572333 RCV000459212 rs769816388 |
501 | S>C | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001697508 CA10515265 RCV002404656 RCV001505717 rs144266307 |
515 | D>N | Charcot-Marie-Tooth Neuropathy X Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2030006759 RCV001343534 |
527 | G>S | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001037553 CA414569829 rs1227079178 |
529 | R>Q | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000800712 rs1603218953 CA414569690 |
532 | S>G | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001172830 RCV000413652 RCV000812665 CA16043259 rs1057517852 |
533 | E>K | Charcot-Marie-Tooth Neuropathy X Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs761765345 RCV000654857 CA10515248 RCV002388156 |
537 | E>K | Charcot-Marie-Tooth Neuropathy X Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA414569155 rs1175521163 RCV001239715 RCV001172829 |
543 | I>V | Charcot-Marie-Tooth Neuropathy X Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001199881 RCV001863141 CA414569092 rs1569415383 |
544 | P>L | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs139322490 CA10515244 RCV001066132 |
545 | P>S | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs750418813 CA10515242 COSM610998 RCV002402294 RCV000467856 RCV001810958 |
548 | P>L | lung Charcot-Marie-Tooth Neuropathy X Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000414973 CA10515240 RCV002307493 RCV001198204 rs761953453 RCV002470855 |
549 | A>V | Leukodystrophy Charcot-Marie-Tooth disease X-linked recessive 4 Spondyloepimetaphyseal dysplasia, Bieganski type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001234213 rs2029999918 |
554 | P>S | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001243677 rs1308417889 CA414568631 |
557 | G>W | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA175074 RCV000149868 rs724160024 |
560 | Y>H | Deafness, X-linked 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1375125488 RCV002487666 CA414568210 RCV000796324 |
565 | I>V | Charcot-Marie-Tooth Neuropathy X Charcot-Marie-Tooth disease X-linked recessive 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1603218828 RCV000797426 CA414567989 COSM3405961 |
570 | D>E | Charcot-Marie-Tooth Neuropathy X central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA10515228 rs747871895 RCV001318544 |
584 | R>Q | Charcot-Marie-Tooth Neuropathy X Variant assessed as Somatic; 6.246e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| VAR_076221 | 591 | I>M | DFNX5; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001219360 rs2029975071 |
594 | D>A | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinVar dbSNP |
|
rs147206884 CA10515207 RCV001339309 |
602 | N>S | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV002634101 CA323626 rs863223899 |
607 | L>Q | Charcot-Marie-Tooth Neuropathy X [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1333494789 CA414565747 |
2 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1326038976 CA414565759 |
2 | F>S | No |
ClinGen gnomAD |
|
|
CA335110000 rs769299264 |
3 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769299264 CA10515552 |
3 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA335110007 rs868066290 |
3 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs745705013 CA335109998 CA10515551 |
5 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1281362624 CA414565592 |
8 | A>T | No |
ClinGen gnomAD |
|
|
CA10515550 rs780914409 |
8 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA414565555 rs1216886553 |
9 | A>S | No |
ClinGen TOPMed |
|
|
CA10515547 rs777684681 |
11 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1226189659 CA414565227 |
17 | V>A | No |
ClinGen TOPMed |
|
|
CA414565169 rs1422909695 |
21 | R>Q | No |
ClinGen gnomAD |
|
|
rs780367991 CA10515544 |
21 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 23 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442923435 CA414564792 |
33 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1310957230 CA414564712 |
35 | P>L | No |
ClinGen gnomAD |
|
|
rs1353159825 CA414593982 |
37 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1353159825 CA414593983 COSM3363810 |
37 | N>T | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs779952484 CA10515526 |
41 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA414593892 rs1376676018 |
50 | M>I | No |
ClinGen gnomAD |
|
|
CA10515524 rs757444572 |
57 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757444572 CA335126498 |
57 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 58 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414593837 rs1359753093 |
58 | G>V | No |
ClinGen gnomAD |
|
|
CA10515522 rs751941034 |
62 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs763317252 CA414593799 |
65 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763317252 CA10515520 |
65 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752263265 CA10515519 |
69 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA10515518 rs764586261 |
77 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 79 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10515517 rs759044906 |
81 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs753372181 CA10515482 |
84 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs376209388 CA10515480 |
86 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 87 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750098055 CA414591296 |
88 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159178119 CA414591236 |
90 | E>K | No |
ClinGen gnomAD |
|
|
rs1139851 CA414591183 |
91 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1362616989 CA414591200 |
91 | D>N | No |
ClinGen gnomAD |
|
|
rs751328794 CA10515476 |
92 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA335123799 rs193127213 |
98 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
CA10515473 rs371559475 |
105 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1361998583 CA414590779 |
105 | T>I | No |
ClinGen TOPMed |
|
|
CA414590797 rs371559475 |
105 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10515472 rs771203298 |
108 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189401103 CA414590655 |
110 | Q>K | No |
ClinGen gnomAD |
|
|
CA414590589 rs1442739253 |
112 | K>R | No |
ClinGen gnomAD |
|
|
rs760798103 CA414590548 |
113 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA10515471 rs760798103 |
113 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1177595766 CA414590480 |
116 | S>C | No |
ClinGen TOPMed |
|
|
rs61730894 CA335123071 |
119 | E>K | No |
ClinGen Ensembl |
|
|
rs1164027365 CA414589369 |
120 | G>E | No |
ClinGen gnomAD |
|
|
rs1200765574 CA414589243 |
126 | D>N | No |
ClinGen TOPMed |
|
|
CA414589218 rs1489239725 |
127 | K>E | No |
ClinGen gnomAD |
|
|
CA10515458 rs763912966 |
128 | A>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763912966 CA414589173 |
128 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs890938805 CA335123026 |
137 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 140 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 151 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10515455 rs757714042 |
153 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765245709 CA10515456 |
153 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs999882329 CA335123022 |
154 | D>N | No |
ClinGen Ensembl |
|
|
CA414588706 rs1556277188 RCV000497847 |
157 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 158 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414588516 rs1313521061 |
163 | S>C | No |
ClinGen TOPMed |
|
|
rs1057035170 CA335122902 |
172 | R>Q | No |
ClinGen Ensembl |
|
|
rs777555574 CA10515441 |
181 | F>L | No |
ClinGen ExAC |
|
|
rs758318295 CA10515440 |
183 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414588157 rs758318295 |
183 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275533429 CA414588124 |
184 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 186 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10515437 rs754899184 |
187 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1603227318 CA414588063 |
188 | T>S | No |
ClinGen Ensembl |
|
|
rs1487933761 CA414588030 |
190 | T>A | No |
ClinGen TOPMed |
|
|
rs775094324 CA10515435 |
192 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761799145 CA10515434 |
192 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA414587939 rs1085307990 RCV000489087 |
193 | F>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1184797722 CA414587836 |
196 | W>* | No |
ClinGen TOPMed |
|
|
CA414587280 rs1569419674 |
203 | I>V | No |
ClinGen Ensembl |
|
|
rs1376360976 CA414587137 |
208 | P>H | No |
ClinGen gnomAD |
|
| TCGA novel | 209 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176677097 CA414586835 |
218 | P>L | No |
ClinGen gnomAD |
|
|
CA10515421 rs758085497 |
220 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414586797 rs1401311814 |
220 | I>V | No |
ClinGen TOPMed |
|
|
CA414586766 rs1477894049 |
221 | E>K | No |
ClinGen gnomAD |
|
|
CA10515420 rs772632422 |
227 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1443469616 CA414586522 |
229 | T>N | No |
ClinGen TOPMed |
|
|
CA414583591 rs1419736568 |
234 | V>I | No |
ClinGen gnomAD |
|
|
CA414583575 rs1359527015 |
235 | Q>K | No |
ClinGen gnomAD |
|
|
rs1202786652 CA414583513 |
237 | D>A | No |
ClinGen TOPMed |
|
|
rs778430332 CA10515402 |
241 | N>D | No |
ClinGen ExAC |
|
|
rs1466109090 CA414583243 |
246 | N>H | No |
ClinGen TOPMed |
|
| TCGA novel | 248 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749002735 CA10515400 |
248 | G>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3424459 CA414583135 rs1181577633 |
250 | Q>P | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA10515387 rs771777631 |
263 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA414582534 rs1460156998 |
269 | A>V | No |
ClinGen gnomAD |
|
|
rs1450416950 CA414582529 |
270 | I>V | No |
ClinGen TOPMed |
|
|
CA414582471 rs1426472041 |
273 | A>T | No |
ClinGen gnomAD |
|
|
rs768150472 CA10515384 |
278 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1297660872 CA414582237 |
280 | R>K | No |
ClinGen TOPMed |
|
|
rs146944795 CA335119865 |
286 | K>R | No |
ClinGen ESP |
|
|
rs1569418090 CA414581707 |
291 | R>K | No |
ClinGen Ensembl |
|
|
CA10515374 rs754243861 |
294 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs121965089 CA335119449 |
313 | S>N | No |
ClinGen Ensembl |
|
|
CA10515368 rs768366540 |
322 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414580215 rs1238848380 |
325 | A>S | No |
ClinGen gnomAD |
|
|
CA414580022 rs1603223185 |
330 | V>G | No |
ClinGen Ensembl |
|
|
CA10515351 rs199531131 |
331 | I>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA10515350 rs775170934 |
335 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1189292666 CA414579299 |
350 | N>I | No |
ClinGen gnomAD |
|
|
CA10515344 rs749369271 |
353 | M>V | No |
ClinGen ExAC |
|
|
CA335118428 rs1043351232 |
358 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs894365881 CA335118130 |
363 | V>L | No |
ClinGen TOPMed |
|
|
CA414578594 RCV000519178 rs1556262326 |
364 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1242184469 CA414578551 |
365 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 368 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472403506 CA414578313 |
370 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs149001713 CA10515326 |
370 | Q>R | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 371 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 371 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214759327 CA414578203 |
372 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 372 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414578143 rs1057521792 |
374 | V>L | No |
ClinGen gnomAD |
|
|
rs770142234 CA10515324 |
385 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA414577545 rs1474640021 |
386 | G>D | No |
ClinGen TOPMed |
|
|
rs746155778 CA10515323 |
386 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 390 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414575708 rs1162698865 |
392 | D>G | No |
ClinGen TOPMed |
|
|
CA322395 RCV000197930 rs863223898 |
395 | V>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10515314 rs778329598 |
397 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs775945035 CA335117931 |
397 | A>S | No |
ClinGen Ensembl |
|
|
CA414575358 RCV000493175 rs1131691983 |
402 | P>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs866953242 CA335117920 |
407 | A>V | No |
ClinGen Ensembl |
|
|
rs753549726 CA414574988 |
411 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468364039 CA414575004 |
411 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 415 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760430538 COSM1115017 CA10515310 |
417 | D>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA414574771 rs1212936719 |
418 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 418 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347179963 CA414574488 |
432 | N>K | No |
ClinGen gnomAD |
|
|
rs770503254 CA10515298 |
437 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1307088189 CA414573809 |
445 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 448 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414573695 rs1424829478 |
450 | R>K | No |
ClinGen gnomAD |
|
|
CA414573661 rs1366932723 |
452 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs867542670 CA335116469 |
466 | G>* | No |
ClinGen Ensembl |
|
|
rs753318704 CA10515291 |
481 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA414573059 rs1420109388 |
481 | M>V | No |
ClinGen gnomAD |
|
|
CA414571313 rs1485678052 |
491 | G>A | No |
ClinGen gnomAD |
|
|
CA10515273 rs61752975 |
492 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA414571009 rs1569415800 |
503 | P>L | No |
ClinGen Ensembl |
|
|
CA10515271 rs755572140 |
503 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 506 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414570827 rs1200414057 |
509 | A>T | No |
ClinGen gnomAD |
|
|
rs369259253 CA10515267 |
512 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA335115469 rs904865982 |
516 | N>H | No |
ClinGen Ensembl |
|
|
rs1395668909 CA414570553 |
518 | K>R | No |
ClinGen gnomAD |
|
|
rs1220988295 CA414570484 |
520 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 522 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1164578339 CA414570441 |
522 | E>K | No |
ClinGen gnomAD |
|
|
CA414569938 RCV000521771 rs1556252472 |
525 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 526 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414569718 rs1285480966 |
531 | E>V | No |
ClinGen TOPMed |
|
|
CA10515249 rs756931140 |
535 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs777653625 CA10515247 |
537 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1371400391 CA414569357 |
538 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA414569216 rs1205747701 |
541 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 543 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758114544 CA10515246 |
543 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA10515245 rs752745547 |
544 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1569415378 CA414569036 |
546 | S>G | No |
ClinGen Ensembl |
|
|
rs756265017 CA10515243 |
547 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA323519 RCV000198976 rs863223897 |
548 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10515239 rs751772320 |
550 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10515237 rs763199888 |
551 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10515236 rs776116170 |
553 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs951798748 CA335114782 |
555 | V>A | No |
ClinGen gnomAD |
|
|
CA10515235 rs201753098 |
555 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 557 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391324425 CA414568570 |
558 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA10515234 rs766257480 |
559 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1394889162 CA414568513 |
559 | D>G | No |
ClinGen gnomAD |
|
|
rs941734227 CA335114729 |
561 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs142295482 CA10515231 |
570 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1228810877 CA414567842 |
574 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 575 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10515227 rs778929595 |
585 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA414566744 rs1275679300 |
592 | I>V | No |
ClinGen gnomAD |
4 associated diseases with O95831
[MIM: 300816]: Combined oxidative phosphorylation deficiency 6 (COXPD6)
A mitochondrial disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting. Some patients manifest prenatal ventriculomegaly and severe postnatal encephalomyopathy. {ECO:0000269|PubMed:20362274, ECO:0000269|PubMed:22019070, ECO:0000269|PubMed:25583628, ECO:0000269|PubMed:26004228, ECO:0000269|PubMed:26173962, ECO:0000269|PubMed:27178839}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 310490]: Charcot-Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia (CMTX4)
A neuromuscular disorder characterized by progressive sensorimotor axonal neuropathy, distal sensory impairment, difficulty walking due to peripheral neuropathy and/or cerebellar ataxia, and deafness due to auditory neuropathy. Additional features include cognitive impairment, cerebellar atrophy, dysarthria, abnormal extraocular movements, tremor, dysmetria and spasticity. The age at onset ranges from infancy to young adulthood. {ECO:0000269|PubMed:23217327, ECO:0000269|PubMed:26004228}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 300614]: Deafness, X-linked, 5, with peripheral neuropathy (DFNX5)
A form of hearing loss characterized by absent or severely abnormal auditory brainstem response, abnormal middle ear reflexes, abnormal speech discrimination, loss of outer hair cell function, and cochlear nerve hypoplasia. DFNX5 patients manifest auditory neuropathy with childhood onset, associated with distal sensory impairment affecting the peripheral nervous system. {ECO:0000269|PubMed:25986071}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 300232]: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy (SEMDHL)
An X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy. {ECO:0000269|PubMed:28842795}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A mitochondrial disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting. Some patients manifest prenatal ventriculomegaly and severe postnatal encephalomyopathy. {ECO:0000269|PubMed:20362274, ECO:0000269|PubMed:22019070, ECO:0000269|PubMed:25583628, ECO:0000269|PubMed:26004228, ECO:0000269|PubMed:26173962, ECO:0000269|PubMed:27178839}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A neuromuscular disorder characterized by progressive sensorimotor axonal neuropathy, distal sensory impairment, difficulty walking due to peripheral neuropathy and/or cerebellar ataxia, and deafness due to auditory neuropathy. Additional features include cognitive impairment, cerebellar atrophy, dysarthria, abnormal extraocular movements, tremor, dysmetria and spasticity. The age at onset ranges from infancy to young adulthood. {ECO:0000269|PubMed:23217327, ECO:0000269|PubMed:26004228}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of hearing loss characterized by absent or severely abnormal auditory brainstem response, abnormal middle ear reflexes, abnormal speech discrimination, loss of outer hair cell function, and cochlear nerve hypoplasia. DFNX5 patients manifest auditory neuropathy with childhood onset, associated with distal sensory impairment affecting the peripheral nervous system. {ECO:0000269|PubMed:25986071}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy. {ECO:0000269|PubMed:28842795}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial intermembrane space | The region between the inner and outer lipid bilayers of the mitochondrial envelope. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| FAD binding | Binding to the oxidized form, FAD, of flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes. |
| NAD(P)H oxidase H2O2-forming activity | Catalysis of the reaction: NAD(P)H + H+ + O2 = NAD(P)+ + hydrogen peroxide. |
| NADH dehydrogenase activity | Catalysis of the reaction: NADH + H+ + acceptor = NAD+ + reduced acceptor. |
| oxidoreductase activity, acting on NAD(P)H | Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. |
| poly-ADP-D-ribose binding | Binding to polymeric ADP-D-ribose, a polymer that is composed of poly-ADP-D-ribose units linked through 1,2-glycosidic bonds at the ribose ring. |
| protein dimerization activity | The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits. |
22 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process. |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| cellular response to aldosterone | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an aldosterone stimulus. |
| cellular response to estradiol stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen. |
| cellular response to hydrogen peroxide | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydrogen peroxide (H2O2) stimulus. |
| cellular response to nitric oxide | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitric oxide stimulus. |
| cellular response to oxygen-glucose deprivation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of the deprivation of oxygen and glucose. |
| chromosome condensation | The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. |
| intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to a stimulus indicating endoplasmic reticulum (ER) stress, and ends when the execution phase of apoptosis is triggered. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
| mitochondrial respiratory chain complex assembly | The aggregation, arrangement and bonding together of a set of components to form a mitochondrial respiratory chain complex. |
| mitochondrial respiratory chain complex I assembly | The aggregation, arrangement and bonding together of a set of components to form mitochondrial respiratory chain complex I. |
| neuron apoptotic process | Any apoptotic process in a neuron, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. |
| neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of necroptotic process | Any process that increases the rate, frequency or extent of a necroptotic process, a necrotic cell death process that results from the activation of endogenous cellular processes, such as signaling involving death domain receptors or Toll-like receptors. |
| positive regulation of neuron apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death of neurons by apoptotic process. |
| programmed cell death | A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell. |
| protein import into mitochondrial intermembrane space | The import of proteins into the space between the inner and outer mitochondrial membranes. |
| regulation of apoptotic DNA fragmentation | Any process that modulates the frequency, rate or extent of apoptotic DNA fragmentation. |
| response to ischemia | Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a inadequate blood supply. |
| response to L-glutamate | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an L-glutamate stimulus. |
| response to toxic substance | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q96NN9 | AIFM3 | Apoptosis-inducing factor 3 | Homo sapiens (Human) | PR |
| Q3TY86 | Aifm3 | Apoptosis-inducing factor 3 | Mus musculus (Mouse) | PR |
| Q9Z0X1 | Aifm1 | Apoptosis-inducing factor 1, mitochondrial | Mus musculus (Mouse) | PR |
| Q9JM53 | Aifm1 | Apoptosis-inducing factor 1, mitochondrial | Rattus norvegicus (Rat) | PR |
| Q93WJ8 | MDAR2 | Monodehydroascorbate reductase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFRCGGLAAG | ALKQKLVPLV | RTVCVRSPRQ | RNRLPGNLFQ | RWHVPLELQM | TRQMASSGAS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GGKIDNSVLV | LIVGLSTVGA | GAYAYKTMKE | DEKRYNERIS | GLGLTPEQKQ | KKAALSASEG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EEVPQDKAPS | HVPFLLIGGG | TAAFAAARSI | RARDPGARVL | IVSEDPELPY | MRPPLSKELW |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FSDDPNVTKT | LRFKQWNGKE | RSIYFQPPSF | YVSAQDLPHI | ENGGVAVLTG | KKVVQLDVRD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NMVKLNDGSQ | ITYEKCLIAT | GGTPRSLSAI | DRAGAEVKSR | TTLFRKIGDF | RSLEKISREV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KSITIIGGGF | LGSELACALG | RKARALGTEV | IQLFPEKGNM | GKILPEYLSN | WTMEKVRREG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VKVMPNAIVQ | SVGVSSGKLL | IKLKDGRKVE | TDHIVAAVGL | EPNVELAKTG | GLEIDSDFGG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FRVNAELQAR | SNIWVAGDAA | CFYDIKLGRR | RVEHHDHAVV | SGRLAGENMT | GAAKPYWHQS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MFWSDLGPDV | GYEAIGLVDS | SLPTVGVFAK | ATAQDNPKSA | TEQSGTGIRS | ESETESEASE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ITIPPSTPAV | PQAPVQGEDY | GKGVIFYLRD | KVVVGIVLWN | IFNRMPIARK | IIKDGEQHED |
| 610 | |||||
| LNEVAKLFNI | HED |